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• W2024320203 abstract "We read with great interest the article by Pilu and colleagues, ‘Prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler’1. Their preliminary results suggest a discrepancy in the size of the signals generated by intracranial arteries branching from the internal carotids and those branching from the vertebral arteries in fetuses with microcephaly. The authors postulated that such prenatal findings reflected a reduction in blood supply to the cerebral hemispheres compared with a normal supply to the brainstem and cerebellum. We would like to provide additional information on this topic by describing two cases of microcephaly diagnosed by ultrasound at 23 and 25 weeks' gestation. A 29-year-old woman, gravida 2, para 1, was referred at 25 weeks' gestation to our Ultrasound and Prenatal Diagnosis Unit, owing to the suspicion of a fetal anomaly. The obstetric history detailed a spontaneous vaginal delivery of a healthy full-term male infant weighing 3100 g. At the beginning of the second pregnancy the couple underwent genetic counselling, because the family history revealed two cousins of the husband affected by microcephaly. The pregnancy was otherwise unremarkable. At 16 weeks' gestation, maternal serum screening for trisomy 21 and neural tube defects was negative, with a risk for trisomy 21 of 1/1385 and a risk for neural tube defects of 1/16159. The maternal serum TORCH screen was negative. The previous ultrasound examination performed at 13 and 16 weeks' gestation in a county hospital were normal, although borderline measurements of the biparietal diameter and head circumference were obtained at 16 weeks. At 20 weeks, fetal head biometry was below the normal values for gestational age. This was also the case at 25 weeks' gestation, when the woman was referred to our unit. A transabdominal ultrasound examination performed at our centre with the use of an ATL HDI-Ultramark 9 machine with a 3.5 MHz probe, revealed a single fetus, in breech presentation. The placenta was located posteriorly and the amniotic fluid volume was within the normal range. Fetal biometry was consistent with 25 weeks' gestation, except for the head biometry (Table 1). The intracranial evaluation revealed an abnormal shape and biometry of the lateral ventricles (atrium of 12 mm). No other morphological abnormalities were detected. A diagnosis of fetal microcephaly was made. An evaluation of the cerebral vessels was performed by use of color Doppler and power Doppler. The appearance of the circle of Willis was similar to that of normal fetuses at the same gestational age (Figure 1). Case 1: An axial scan of the fetal head at 25 weeks' gestation, showing the circle of Willis by power Doppler. There is no discrepancy between the size of the signals generated from the anterior cerebral arteries (on the right of the image) and those generated from the posterior cerebral arteries (on the left of the image). The couple received counselling and they declined further fetal investigations, including fetal karyotyping. Monthly follow-up was instigated. Growth of the abdomen and femur continued within the normal range for gestational age, with an abdominal circumference at −2 SD near term. Umbilical Doppler findings and amniotic fluid volume remained normal. Head biometry (biparietal diameter and head circumference) deviated progressively from the mean value, with measurements of the lateral cerebral ventricles increasing to 15 mm. Power Doppler examination at 29 and 34 weeks' gestation revealed a normal appearance of the circle of Willis (Figure 2). Case 1: similar images were obtained at gestational ages of 29 weeks (a) and 34 weeks (b). At 40 weeks' gestation an elective Cesarean section was performed for breech presentatioin. A 2710-g female was delivered, with Apgar score of 8 and 9 at 1 and 5 min, respectively. Neonatal examination confirmed the presence of microcephaly with mild cerebral ventricle dilatation. The neonatal karyotype was normal. A 21-year-old woman, para 0, was referred at 23 weeks' gestation to our Ultrasound and Prenatal Diagnosis Unit following the diagnosis of suspected fetal cranial malformation. Her past obstetric history was unremarkable and neither parent had been exposed to hazardous environmental factors. A TORCH screen in the mother was negative and she was non-immune for cytomegalovirus. The family history revealed the presence of a first cousin of the woman affected by microcephaly. The first scan at the county hospital confirmed the anamnestic gestational age. The 21-week anomaly scan revealed borderline values of the head circumference and biparietal diameter relative to both gestational age and to other fetal measurements. Two weeks later a further ultrasound scan was performed. The patient was then referred to our center, where an ultrasound examination using an Aloska SSD-1700 machine with a 3.5 MHz probe, revealed a single fetus, in breech presentation. The placenta was located anteriorly and the amniotic fluid volume was within the normal range. Fetal biometry was consistent with 23 weeks' gestation, except for the head biometry (Table 1)2. The intracranial architecture appeared normal, except for an enlargement of the subarachnoid space surrounding the cerebral hemispheres. A subjective impression of a sloping forehead was obtained. Careful examination of the remaining fetal anatomy was normal and a diagnosis of fetal microcephaly was made. A detailed evaluaiton of the cerebral vascularization was made using power Doppler, and a normal appearance of the circle of Willis was observed (Figure 3). Case 2: image of the circle of Willis by power Doppler at 23 weeks' gestation. The couple received appropriate counselling. Fetal karyotyping was proposed, and 2 days later the patient underwent cordocentesis, which demonstrated a normal 46XX karyotype. The couple requested termination of pregnancy. A full postmortem examination was made and the diagnosis of microcephaly was confirmed. The head circumference was 17.5 cm and the fetal brain weighed 42 g, with no evidence of macroscopic alterations. Histological examination revealed anomalies of the cortical neurones. Deterioration of the aborted fetus prevented a detailed examination of the cerebral vascularization. Our observations differed from the recent data of Pilu and coworkers1; in our two cases the signals generated by the anterior cerebral arteries were similar to those generated by the posterior cerebral arteries, and such a finding was observed through both pregnancies. A wide spectrum of cerebral anomalies have been described in association with fetal microcephaly. We believe that a greater number of cases are required, to assess whether an abnormality of vascularization is present in most cases of fetal microcephaly. Our observations suggest that such an abnormality is not always present, and it therefore remains to be investigated which forms of microcephaly are correlated with such a physiological basis. In the case reported by Pilu and colleagues1, it could be postulated not only that a smaller volume of blood is required by the diminished brain mass, but that a smaller brain mass is determined by a diminished blood supply. This correlates with the primary vascular defect as suggested by Persutte3." @default.
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• W2024320203 title "Prenatal diagnosis of fetal microcephaly: contribution of power Doppler" @default.
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